A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548453



Internal ID16335862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187956195..187985181hg38UCSC Ensembl
Innerchr1:187925326..187954312hg19UCSC Ensembl
Innerchr1:186191949..186220935hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3828987
hg1928987
hg1828987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv730667
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548453
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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